Progressive bilateral facial weakness.
Ontology highlight
ABSTRACT:
SUBMITTER: Carswell C
PROVIDER: S-EPMC4316867 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Publications
Progressive bilateral facial weakness.
Carswell Christopher C Northey Luke C LC Davies Leo L Yuki Nobuhiro N Kiernan Matthew C MC
Practical neurology 20141029 1
Similar Datasets
Project description:Titin (TTN) is a large gene with 363 exons that encodes a large abundant protein (longest known polypeptide in nature) that is expressed in cardiac and skeletal muscles. TTN has an important role in the sarcomere organization, assembly of muscles, transmission of the force at the Z-line, passive myocyte stiffness, and resting tension maintenance in the I-band region. Mutation in extreme C terminus of TTN, situated at the end of M-band of the TTN in chromosome 2q31, results in tibial muscular dystrophy (TMD), also called Udd Distal Myopathy, which is an autosomal dominant distal myopathy. In this article, we report a novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging. This report adds to the literature a heterozygous missense variant c.85652C>G, p.(Pro28551Arg) in TTN gene, which may be related to genes that cause the disease, but more case validation is needed. The novel mutation described in the present study widened the genetic spectrum of TTN-associated diseases, which may benefit studies addressing this disease in the future.
| S-EPMC6557229 | biostudies-literature
Project description:ObjectiveMyasthenia gravis (MG) is an autoimmune disease leading to fatigable muscle weakness. Extra-ocular and bulbar muscles are most commonly affected. We aimed to investigate whether facial weakness can be quantified automatically and used for diagnosis and disease monitoring.MethodsIn this cross-sectional study, we analyzed video recordings of 70 MG patients and 69 healthy controls (HC) with two different methods. Facial weakness was first quantified with facial expression recognition software. Subsequently, a deep learning (DL) computer model was trained for the classification of diagnosis and disease severity using multiple cross-validations on videos of 50 patients and 50 controls. Results were validated using unseen videos of 20 MG patients and 19 HC.ResultsExpression of anger (p = 0.026), fear (p = 0.003), and happiness (p < 0.001) was significantly decreased in MG compared to HC. Specific patterns of decreased facial movement were detectable in each emotion. Results of the DL model for diagnosis were as follows: area under the curve (AUC) of the receiver operator curve 0.75 (95% CI 0.65-0.85), sensitivity 0.76, specificity 0.76, and accuracy 76%. For disease severity: AUC 0.75 (95% CI 0.60-0.90), sensitivity 0.93, specificity 0.63, and accuracy 80%. Results of validation, diagnosis: AUC 0.82 (95% CI: 0.67-0.97), sensitivity 1.0, specificity 0.74, and accuracy 87%. For disease severity: AUC 0.88 (95% CI: 0.67-1.0), sensitivity 1.0, specificity 0.86, and accuracy 94%.InterpretationPatterns of facial weakness can be detected with facial recognition software. Second, this study delivers a 'proof of concept' for a DL model that can distinguish MG from HC and classifies disease severity.
| S-EPMC10424649 | biostudies-literature
Project description:BackgroundCentral facial palsy (CFP), resulting from upper motor neuron lesions in the corticofacial pathway, is traditionally characterized by the sparing of the upper facial muscles. However, reports of upper facial weakness in CFP due to acute ischemic stroke have challenged this long-held assumption. This study aimed to determine the prevalence of upper facial weakness in CFP and identify its associated clinical factors.MethodsIn this cross-sectional study, we evaluated consecutive patients with acute ischemic stroke admitted to a university hospital in Thailand from January 2022 to June 2023. Full-face video recordings were analyzed using the Sunnybrook Facial Grading System. Upper facial weakness was defined as asymmetry in at least one upper facial expression. Multivariable logistic regression was performed to identify factors associated with upper facial weakness.ResultsOf 108 patients with acute ischemic stroke, 92 had CFP, and among these, 70 (76%) demonstrated upper facial weakness. Tight eye closure (force and wrinkle formation, both 42%) was the most sensitive indicator for detecting upper facial weakness. Greater stroke severity, as reflected by higher NIHSS scores (adjusted odds ratio [aOR], 1.42; 95% CI 1.07-1.88) and the presence of lower facial weakness (aOR, 6.56; 95% CI 1.85-23.29) were significantly associated with upper facial involvement. Although upper facial weakness was generally milder than lower facial weakness, its severity correlated with increasing lower facial asymmetry during movement.ConclusionsContrary to traditional teaching, upper facial weakness is common in CFP due to acute ischemic stroke. The severity of stroke and the presence of lower facial weakness are key predictors of upper facial involvement. These findings underscore the need for clinicians to reconsider the diagnostic paradigm, recognizing that upper facial weakness can occur in CFP. Enhanced awareness may improve diagnostic accuracy, inform treatment decisions, and ultimately lead to better patient outcomes.
| S-EPMC11767383 | biostudies-literature
Project description: Not available
| S-EPMC8028293 | biostudies-literature
Project description:BackgroundPatients with an intensive care unit-acquired weakness (ICU-AW) often present clinically with severe paresis of the limb and trunk muscles while facial muscles appear less affected. To investigate whether the facial nerves are partially spared from this condition, we performed both peripheral and cranial nerve conduction studies in critically ill patients.MethodsIn patients requiring prolonged ICU therapy, the motor and sensory nerve conduction velocities of the peroneal, ulnar and facial nerves and the muscle action potentials of the associated muscles, as well as the orbicularis oculi reflexes were assessed shortly after admission, and on ICU days 7 and 14.ResultsEighteen patients were included in the final data analysis (average age 54.2 ± 16.8 years, 8 females). The amplitudes of the peroneal nerve compound muscle action potentials (CMAPs) were reduced in all patients at ICU days 7 and 14 (F(1.39; 23.63) = 13.85; p < 0.001). There was no similar decrease in the CMAP amplitudes of the ulnar or facial nerve. Other parameters of nerve function (latencies, sensory and motor nerve conduction velocities, sensory nerve action potentials) remained unchanged. The reproducibility of the orbicularis oculi reflex was reduced during the disease course, while its latencies did not change significantly during the disease course.ConclusionsThere is a relative preservation of CMAPs in facial and hand as opposed to foot muscles. This is compatible with the clinical observation that the facial muscles in patients with ICU-AW are less severely affected. This may be primarily a function of the nerve length, and consequently more robust trophic factors in shorter nerves. Trial registration This study was prospectively registered in the German Clinical Trial Register on April 20th 2020 (DRKS00021467).
| S-EPMC10512492 | biostudies-literature
Project description:Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for RYR1 variants using Next-Generation Sequencing (NGS). We analyzed 27 patients from 19 unrelated families: four families (11 patients) with autosomal dominant inheritance (AD), two families (3 patients) with autosomal recessive (AR), and 13 sporadic cases. Biallelic RYR1 variants were found in six families (two AR and four sporadic cases) of the 14 molecularly analyzed families (~43%), suggesting a higher frequency of AR inheritance than expected. None of these cases presented a severe phenotype. Facial weakness was more common in biallelic than in monoallelic patients (p = 0.0043) and might be a marker for AR forms. NGS is highly effective for the identification of RYR1 variants in CCD patients, allowing the discovery of a higher proportion of AR cases with biallelic mutations. These data have important implications for the genetic counseling of the families.
| S-EPMC9141459 | biostudies-literature
Project description:Guillain-Barrè syndrome (GBS) is an acute immune-mediated neuropathy, possibly triggered by a recent infection or vaccination, and driven by an immune attack targeting the peripheral nervous system. GBS typically leads to ascending limb weakness, often with sensory and cranial nerve involvement 1-2 weeks after immune stimulation, but emergency and neurology physicians should be aware of its important clinical heterogeneity. In rare cases, bilateral facial nerve palsy can be the main clinical manifestation, as the case of the variant formerly known as bilateral facial weakness with paresthesias. An increasing number of case reports of GBS in patients receiving COVID-19 vaccination have been reported both during the pre-clinical phase and after large-scale authorities' approval. We report two cases of bifacial palsy with paresthesias, a rare variant of GBS, both occurring after the first dose of COVID-19 vaccine Vaxzevria™ (formerly COVID-19 vaccine AstraZeneca), showing a favorable outcome after high-dose immunoglobulin therapy, and discuss the literature of GBS post-COVID-19 vaccination.
| S-EPMC8973678 | biostudies-literature
Project description:There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.
| S-EPMC8028830 | biostudies-literature
Project description:Background There has been lot of speculation around the possible side effects associated with COVID vaccination and incidence of facial palsy is one of them. Bilateral facial palsy is less likely to be idiopathic as compared to unilateral facial nerve palsy and warrants further investigations to find any secondary cause. COVID 19 infection and the vaccinations for the same are also included in the unique list of differentials. Case report We report an interesting case of bilateral rapidly sequential facial nerve palsy following the administration of COVID vaccination that showed subsequent improvement. We provide literature review to report the current incidence of same, secondary to the vaccination as well the infection itself Case presentation Following the introduction of COVID 19 vaccine, there have been reports of various cranial nerve involvement including lower motor neuron type facial paresis. Bilateral facial palsy is less likely to be idiopathic as compared to unilateral palsy(23% vs 70%) and requires further work up to determine the etiology before determining to be idiopathic. Unilateral facial palsy(FP) has been reported in the Phase I and II trials for Pfizer and Moderna vaccine, with a total of 7 cases reported in these initial trials. To date, there is no direct evidence that these vaccines have increased the incidence of facial palsy as compared to adverse events reported with other vaccines or compared to COVID 19 infection itself. We report a unique case of bilateral lower motor neuron type facial palsy noted in a young male within hours of receiving the vaccine that later improved with treatment. Reports of simultaneous bilateral facial palsy after vaccine are rare with only few cases reported to date in literature. Conclusion In conclusion from current available literature, we would like to postulate that though there is a risk of facial nerve palsy following the vaccination, it is comparable to the risks associated with any other vaccinations and not been higher than the non-vaccinated population. The overall risk is higher with the actual COVID 19 infection itself as compared to the vaccine.
| S-EPMC9556870 | biostudies-literature
Project description:IntroductionCongenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW.MethodsForty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDx evaluations, including blink reflex and facial and peripheral nerve conduction studies, with optional needle electromyography.ResultsMBS and hereditary congenital facial paresis (HCFP) subjects had low-amplitude cranial nerve 7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter syndrome, myotonic dystrophy, other undefined myopathies, or CFW with arthrogryposis, ophthalmoplegia, and other system involvement.DiscussionEDx in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling.
| S-EPMC8353595 | biostudies-literature